RESEARCH
GNB1 Natural History Study
The GNB1 Advocacy group has partnered with Boston's Children Hospital (BCH) Movement Clinic to launch a Natural History Study! The natural history study will be a part of a larger PEDS (pediatric epilepsy-dyskinesia study) at BCH. The goal of the study is to track the natural course of GNB1 and GNB2 in patients with the condition, to understand their medical history, symptoms, and functioning.
This study includes two parts: the baseline assessment and yearly follow-up assessments
​
-
Baseline Assessment: This initial assessment helps establish a comprehensive understanding of your medical history, symptoms, and functional abilities.
-
Biological Sample Collection: BCH may ask to collect blood or other biological samples as part of this study. You do not have to say yes to this to participate in the study. If you do say yes, there may or may not be costs associated with the collection.
-
-
Yearly Follow-Up Assessment: This annual assessment evaluates any changes in your medical history, symptoms, and functional abilities over the past year. It helps track disease progression, treatment effectiveness, and overall health status.
​
ENROLL TODAY!
For more details on the steps involved in the study, please visit this website:
https://www.def-lab.org/natural-history-study-visits/
To enroll in the study, please contact movementdisorders@childrens.harvard.edu
​
Let them know you are a GNB1 (or GNB2) patient, or parent/caregiver of a GNB1/GNB2 patient, and you want to enroll in the PEDS study.
Important notes about the study:​
​
-
This study is being led by Boston's Children's Hospital by Drs. Darius Ebrahimi-Fakhari and Kathryn Yang. The advocacy group can help answer questions about the study, but there is a skilled team at BCH dedicated to helping you through every step of the study. Once you get enrolled, please use them as your first-line of contact.
-
At the time of the baseline assessment, the BCH team will also review the details of the study as well as your rights and responsibilities, and answer any questions you have about participation.
-
The BCH study team is prepared to enroll you from the comfort of your home. All you need is an internet connection and access to Zoom. Translation is available in almost any language. If they determine that it would be helpful to coordinate with your local doctor, they will let you know, and you can decide if you would like to do that.
-
There is no cost for participating in this study. If you decide to visit your local doctor for any participation in the study, you may be expected to pay whatever you would usually pay to visit that doctor.
FAQs
​What is a natural history study?
A natural history study is a type of research where doctors observe how a disease develops over time. It helps to identify factors like genetics, environment, and existing medications that might affect how the disease progresses. The goal is to understand the disease’s natural course—from when it starts to its outcome—whether that’s improvement, resolution, stagnation, or decline.
Why is a natural history study important?
A natural history study is essential, and often required, for gene therapy clinical trials, and other research into treatments. It provides crucial data on how the disease progresses and varies. It will allow for a better understanding of the disease as a whole, and can provide important information to assist patients, their caregivers, and providers in knowing what to expect and ways they can respond.
Why are natural history studies important for gene therapy trials?
Natural history studies:
-
Establish a Baseline: Understanding the natural progression of a disease is crucial for treatment development.
-
Disease Understanding: These studies provide valuable insights into the symptoms, risk factors, progression, and complications of rare diseases, where such data is often limited.
-
Refine Clinical Endpoints: The data helps identify meaningful endpoints and biomarkers to accurately assess the gene therapy’s impact.
-
Patient Selection: Natural history data helps pinpoint the right patients for clinical trials, ensuring they provide the most relevant information.
-
Regulatory Approval: Regulatory agencies like the FDA require comprehensive natural history data to evaluate the safety and efficacy of new treatments.
-
Support Trial Design: Understanding disease variability and progression helps determine the appropriate duration and size of clinical trials, and supports the use of control groups.
What is the difference between a natural history study and a patient registry?
Patient registries and natural history studies are crucial for driving research forward. Both resources hold information on the experiences of patients and caregivers, and they offer valuable insights to researchers, industry partners who help make drug therapies, regulators, clinical providers, caregivers, and to patients themselves. The data gathered differs- in our case, we are asking patients and their caregivers to provide personal experience information in the patient registry, and in the natural history study we are asking clinicians to verify specific data on the physical presentation of the disease. These databases play a key role in developing an understanding of the disease that can inform research and provide helpful information to patients and their families.
A patient registry, like our existing GNB1 registry, is a collection of data about individuals with a specific condition, often focused on tracking patients over time. Registries can include patients at any stage of the condition and can be used for various purposes, such as identifying patterns, supporting clinical trials, or guiding treatment decisions. Our registry provides patient experience data to researchers who want to study the various aspects of GNB1.
A natural history study, on the other hand, is a type of observational research that specifically follows the progression of a disease or condition. It aims to understand how the disease develops over time, providing insight into the course of the disease, its symptoms, and how it might vary across different patients. Natural history studies are typically designed before treatment options are available, and they can help researchers inform treatment approaches by understanding the disease's natural course.
In short:
-
Patient registry: Tracks ongoing data on individuals with a specific disease, often including treatment and outcomes.Observations reported by patients alone, not verified by physicians.
-
Natural history study: Observes the progression of a disease, focusing on understanding its development. Observations made by qualified physicians, in coordination with patients.